119 citations · 119 across the 1 of their papers we have counts for
4 papers
Teaching agentic AI to generalize expert diagnostic reasoning in rare diseases
Minh-Ha Nguyen, Erica Gray, Bryce A. Schuler +16
Rare disease diagnosis depends on expert reasoning that is scarce and difficult to transfer. Large language models rank the correct disease first in only 35.4% of benchmark cases a…
RareCollab: an LLM-powered framework for multimodal reasoning in Mendelian disease diagnosis
Guantong Qi, Jiasheng Wang, Mei Ling Chong +15
Rare disease diagnosis increasingly relies on integrating genomic, phenotypic and transcriptomic evidence, yet these signals remain difficult to reconcile within a common interpret…
Teaching large language models to reason like expert diagnosticians
Thomas A. Buckley, Riccardo Conci, Peter G. Brodeur +23
Differential diagnosis is an iterative process that integrates patient information with broader medical knowledge. Clinical case series such as the NEJM Clinicopathologic Conferenc…
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
L Cif, D Demailly, JP Lin +112
Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor feat…